[Medical genetic clinic in the Service de Génétique humaine. Functioning and results]

Glaucoma-lens ectopia-microspherophakia-stiffness-shortness (GEMSS) syndrome: a dominant disease with manifestations of Weill-Marchesani syndromes.

American journal of medical genetics·1992

Prenatal diagnosis of cystic hygroma and chorioangioma in the Wolf-Hirschhorn syndrome.

Prenatal diagnosis·1991

Lambotte syndrome: microcephaly, holoprosencephaly, intrauterine growth retardation, facial anomalies, and early lethality--a new sublethal multiple congenital anomaly/mental retardation syndrome in four sibs.

American journal of medical genetics·1990

Rieger anomaly and uveal coloboma with associated anomalies. Third observation of a rare oculo-palato-osseous syndrome--the Abruzzo-Erikson syndrome.

Ophthalmic paediatrics and genetics·1990

[Heredity in congenital dislocation of the hip].

Acta orthopaedica Belgica·1990

[An example of detection of heterozygotes and antenatal diagnosis in four families with anhidrotic ectodermal dysplasia].

Annales de pediatrie·1990

[Calcitonin measurement in fine needle aspiration washout fluid : when biology arbitrates between two cytological diagnoses].

Revue medicale de Liege·2026

[Neonatal screening for sickle cell disease in South Kivu, eastern Democratic Republic of Congo : a hospital-based cross-sectional study].

Revue medicale de Liege·2026

[Evolocumab (Repatha®) : new evidence across the continuum of atherosclerotic cardiovascular disease].

Revue medicale de Liege·2026

[Pulmonary hypertension associated with interstitial lung diseases: current state of the art].

Revue medicale de Liege·2026

[Sudden cardiac death and hypertrophic cardiomyopathy : risk assessment and indications for implantable cardioverter-defibrillator].

Revue medicale de Liege·2026

[The role of therapeutic education in the care of tuberculosis patients].

Revue medicale de Liege·2026

Modifiers of Genetics in ASD Etiology.

Current topics in behavioral neurosciences·2026

The genetic architecture of pentanucleotide repeat variation and disease association.

American journal of human genetics·2026

NLGN3 autism variants have distinct functional impact on synapses and sleep behavior in Drosophila.

PLoS genetics·2026

iPSC neurodegenerative disease initiative isogenic CAG repeat iPSC line for Huntington's disease.

Journal of Huntington's disease·2026

Precision Medicine in Epilepsy: Diagnostic Yield by Next-Generation Sequencing and Genotype-Phenotype Findings in a Romanian Cohort.

International journal of molecular sciences·2026

NGAL as a Biomarker of Tubular Injury and Glomerular Dysfunction in Fabry Nephropathy.

Cells·2026

Related Experiment Videos

[Medical genetic clinic in the Service de Génétique humaine. Functioning and results]

Related Concept Videos

Glaucoma-lens ectopia-microspherophakia-stiffness-shortness (GEMSS) syndrome: a dominant disease with manifestations of Weill-Marchesani syndromes.

Prenatal diagnosis of cystic hygroma and chorioangioma in the Wolf-Hirschhorn syndrome.

Lambotte syndrome: microcephaly, holoprosencephaly, intrauterine growth retardation, facial anomalies, and early lethality--a new sublethal multiple congenital anomaly/mental retardation syndrome in four sibs.

Rieger anomaly and uveal coloboma with associated anomalies. Third observation of a rare oculo-palato-osseous syndrome--the Abruzzo-Erikson syndrome.

[Heredity in congenital dislocation of the hip].

[An example of detection of heterozygotes and antenatal diagnosis in four families with anhidrotic ectodermal dysplasia].

[Calcitonin measurement in fine needle aspiration washout fluid : when biology arbitrates between two cytological diagnoses].

[Neonatal screening for sickle cell disease in South Kivu, eastern Democratic Republic of Congo : a hospital-based cross-sectional study].

[Evolocumab (Repatha®) : new evidence across the continuum of atherosclerotic cardiovascular disease].

[Pulmonary hypertension associated with interstitial lung diseases: current state of the art].

[Sudden cardiac death and hypertrophic cardiomyopathy : risk assessment and indications for implantable cardioverter-defibrillator].

[The role of therapeutic education in the care of tuberculosis patients].

Modifiers of Genetics in ASD Etiology.

The genetic architecture of pentanucleotide repeat variation and disease association.

NLGN3 autism variants have distinct functional impact on synapses and sleep behavior in Drosophila.

iPSC neurodegenerative disease initiative isogenic CAG repeat iPSC line for Huntington's disease.

Precision Medicine in Epilepsy: Diagnostic Yield by Next-Generation Sequencing and Genotype-Phenotype Findings in a Romanian Cohort.

NGAL as a Biomarker of Tubular Injury and Glomerular Dysfunction in Fabry Nephropathy.

Related Experiment Videos

[Medical genetic clinic in the Service de Génétique humaine. Functioning and results]

Related Concept Videos

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